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Aliases for MPZ Gene

Aliases for MPZ Gene

  • Myelin Protein Zero 2 3 4 5
  • Charcot-Marie-Tooth Neuropathy 1B 2 3
  • Myelin Peripheral Protein 3 4
  • MPP 3 4
  • Myelin Protein P0 3
  • CMTDI3 3
  • CMTDID 3
  • HMSNIB 3
  • CMT4E 3
  • CMT2I 3
  • CMT2J 3
  • CMT1B 3
  • CMT1 3
  • CHM 3
  • DSS 3
  • P0 3

External Ids for MPZ Gene

Previous HGNC Symbols for MPZ Gene

  • CMT1
  • CMT1B

Previous GeneCards Identifiers for MPZ Gene

  • GC01M158985
  • GC01M157006
  • GC01M158052
  • GC01M158491
  • GC01M158087
  • GC01M159541
  • GC01M161274
  • GC01M132631

Summaries for MPZ Gene

Entrez Gene Summary for MPZ Gene

  • This gene is specifically expressed in Schwann cells of the peripheral nervous system and encodes a type I transmembrane glycoprotein that is a major structural protein of the peripheral myelin sheath. The encoded protein contains a large hydrophobic extracellular domain and a smaller basic intracellular domain, which are essential for the formation and stabilization of the multilamellar structure of the compact myelin. Mutations in this gene are associated with autosomal dominant form of Charcot-Marie-Tooth disease type 1 (CMT1B) and other polyneuropathies, such as Dejerine-Sottas syndrome (DSS) and congenital hypomyelinating neuropathy (CHN). A recent study showed that two isoforms are produced from the same mRNA by use of alternative in-frame translation termination codons via a stop codon readthrough mechanism. [provided by RefSeq, Oct 2015]

GeneCards Summary for MPZ Gene

MPZ (Myelin Protein Zero) is a Protein Coding gene. Diseases associated with MPZ include Roussy-Levy Syndrome and Charcot-Marie-Tooth Disease, Type 1B. Among its related pathways are Cell adhesion molecules (CAMs) and Neural Crest Differentiation. GO annotations related to this gene include structural molecule activity. An important paralog of this gene is MPZL1.

UniProtKB/Swiss-Prot for MPZ Gene

  • Is an adhesion molecule necessary for normal myelination in the peripheral nervous system. It mediates adhesion between adjacent myelin wraps and ultimately drives myelin compaction.

Gene Wiki entry for MPZ Gene

Additional gene information for MPZ Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MPZ Gene

Genomics for MPZ Gene

Regulatory Elements for MPZ Gene

Enhancers for MPZ Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01H161388 2.1 FANTOM5 Ensembl ENCODE dbSUPER 10.5 -80.0 -79964 2 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 CBX5 ZNF143 SDHC USP21 PPOX DUSP12 ATF6 CFAP126 NR1I3 APOA2 TOMM40L DEDD
GH01H161381 1.5 FANTOM5 Ensembl ENCODE dbSUPER 11.1 -72.9 -72852 2 CTCF ZNF654 REST ATF2 RAD21 RFX5 ZBTB48 HMBOX1 ZNF143 SMC3 SDHC NR1I3 APOA2 TOMM40L ADAMTS4 NDUFS2 MPZ RRM2P2 ENSG00000283696
GH01H161399 1.4 ENCODE dbSUPER 10.1 -89.5 -89466 3 MLX DMAP1 YY1 ZNF143 SP3 NFYC ZC3H11A SSRP1 GLIS1 NBN USP21 SDHC DEDD B4GALT3 ATF6 PPOX ENSG00000238934 DUSP12 ENSG00000224985 ENSG00000227818
GH01H161213 1 ENCODE 10.9 +92.8 92808 6 PKNOX1 FOXA2 MLX ARID4B DMAP1 YY1 ATF7 RUNX3 PAF1 SP5 B4GALT3 NDUFS2 CFAP126 MPZ SDHC DEDD TOMM40L FCER1G NCSTN ADAMTS4
GH01H161386 1 FANTOM5 dbSUPER 10.7 -76.8 -76756 0 PKNOX1 SP3 STAT1 L3MBTL2 HLF RELA CTBP1 STAT2 ZNF341 ADAMTS4 NDUFS2 SDHC NR1I3 APOA2 TOMM40L MPZ FCER1G ATF6 FCRLB
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MPZ on UCSC Golden Path with GeneCards custom track

Genomic Location for MPZ Gene

Chromosome:
1
Start:
161,304,735 bp from pter
End:
161,309,972 bp from pter
Size:
5,238 bases
Orientation:
Minus strand

Genomic View for MPZ Gene

Genes around MPZ on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MPZ Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MPZ Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MPZ Gene

Proteins for MPZ Gene

  • Protein details for MPZ Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P25189-MYP0_HUMAN
    Recommended name:
    Myelin protein P0
    Protein Accession:
    P25189
    Secondary Accessions:
    • Q16072
    • Q5VTH4
    • Q92677
    • Q9BR67

    Protein attributes for MPZ Gene

    Size:
    248 amino acids
    Molecular mass:
    27555 Da
    Quaternary structure:
    • Homodimer and homotetramer.
    SequenceCaution:
    • Sequence=AAH06491.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAP35411.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAA03540.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAG36330.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAH70270.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=EAW52606.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MPZ Gene

    Alternative splice isoforms for MPZ Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MPZ Gene

Post-translational modifications for MPZ Gene

Other Protein References for MPZ Gene

No data available for DME Specific Peptides for MPZ Gene

Domains & Families for MPZ Gene

Gene Families for MPZ Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for MPZ Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P25189

UniProtKB/Swiss-Prot:

MYP0_HUMAN :
  • Belongs to the myelin P0 protein family.
Family:
  • Belongs to the myelin P0 protein family.
genes like me logo Genes that share domains with MPZ: view

Function for MPZ Gene

Molecular function for MPZ Gene

GENATLAS Biochemistry:
myelin protein zero,14.8kDa,adhesion molecule,expressed in Schwann all of the peripheral nervous sytem,involved in formation and maintenance of compact myelin
UniProtKB/Swiss-Prot Function:
Is an adhesion molecule necessary for normal myelination in the peripheral nervous system. It mediates adhesion between adjacent myelin wraps and ultimately drives myelin compaction.

Phenotypes From GWAS Catalog for MPZ Gene

Gene Ontology (GO) - Molecular Function for MPZ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity NAS 7693129
genes like me logo Genes that share ontologies with MPZ: view
genes like me logo Genes that share phenotypes with MPZ: view

Human Phenotype Ontology for MPZ Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MPZ Gene

MGI Knock Outs for MPZ:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for MPZ
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for MPZ Gene

Localization for MPZ Gene

Subcellular locations from UniProtKB/Swiss-Prot for MPZ Gene

Cell membrane; Single-pass type I membrane protein. Cell membrane.
Isoform L-MPZ: Myelin membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MPZ gene
Compartment Confidence
plasma membrane 5
extracellular 3
endoplasmic reticulum 3
lysosome 3
cytoskeleton 2
mitochondrion 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for MPZ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IEA --
GO:0005791 rough endoplasmic reticulum IEA --
GO:0005886 plasma membrane NAS,IDA 18337304
GO:0005887 integral component of plasma membrane IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with MPZ: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MPZ Gene

Pathways & Interactions for MPZ Gene

genes like me logo Genes that share pathways with MPZ: view

Pathways by source for MPZ Gene

1 BioSystems pathway for MPZ Gene
1 KEGG pathway for MPZ Gene

Gene Ontology (GO) - Biological Process for MPZ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007268 chemical synaptic transmission TAS 7693129
GO:0042552 myelination IMP 10545037
GO:0043066 negative regulation of apoptotic process IEA --
GO:0098742 cell-cell adhesion via plasma-membrane adhesion molecules IMP 18337304
GO:0098743 cell aggregation IMP 18337304
genes like me logo Genes that share ontologies with MPZ: view

No data available for SIGNOR curated interactions for MPZ Gene

Drugs & Compounds for MPZ Gene

(17) Drugs for MPZ Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(16) Additional Compounds for MPZ Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with MPZ: view

Transcripts for MPZ Gene

Unigene Clusters for MPZ Gene

Myelin protein zero:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for MPZ
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for MPZ Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7
SP1: - -
SP2: -
SP3:
SP4: -

Relevant External Links for MPZ Gene

GeneLoc Exon Structure for
MPZ
ECgene alternative splicing isoforms for
MPZ

Expression for MPZ Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MPZ Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MPZ Gene

This gene is overexpressed in Nerve - Tibial (x45.9).

Protein differential expression in normal tissues from HIPED for MPZ Gene

This gene is overexpressed in Spinal cord (65.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MPZ Gene



Protein tissue co-expression partners for MPZ Gene

NURSA nuclear receptor signaling pathways regulating expression of MPZ Gene:

MPZ

SOURCE GeneReport for Unigene cluster for MPZ Gene:

Hs.591486

mRNA Expression by UniProt/SwissProt for MPZ Gene:

P25189-MYP0_HUMAN
Tissue specificity: Found only in peripheral nervous system Schwann cells.

Evidence on tissue expression from TISSUES for MPZ Gene

  • Nervous system(4.8)
  • Skin(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MPZ Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cranial nerve
  • ear
  • eye
  • head
  • inner ear
  • meninges
  • mouth
  • neck
  • pharynx
Thorax:
  • esophagus
  • lung
  • rib
  • rib cage
Abdomen:
  • stomach
Pelvis:
  • pelvis
Limb:
  • arm
  • digit
  • foot
  • forearm
  • hand
  • lower limb
  • shin
  • thigh
  • toe
  • upper limb
General:
  • blood
  • peripheral nerve
  • peripheral nervous system
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with MPZ: view

Primer Products

Orthologs for MPZ Gene

This gene was present in the common ancestor of chordates.

Orthologs for MPZ Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MPZ 33 34
  • 99.33 (n)
dog
(Canis familiaris)
Mammalia MPZ 33 34
  • 91.95 (n)
cow
(Bos Taurus)
Mammalia MPZ 33 34
  • 91.53 (n)
mouse
(Mus musculus)
Mammalia Mpz 33 16 34
  • 91.24 (n)
rat
(Rattus norvegicus)
Mammalia Mpz 33
  • 90.82 (n)
oppossum
(Monodelphis domestica)
Mammalia MPZ 34
  • 89 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC100859605 33
  • 72.6 (n)
MPZ 34
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mpz 33
  • 68.7 (n)
zebrafish
(Danio rerio)
Actinopterygii mpz 33 34
  • 56.07 (n)
Species where no ortholog for MPZ was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MPZ Gene

ENSEMBL:
Gene Tree for MPZ (if available)
TreeFam:
Gene Tree for MPZ (if available)

Paralogs for MPZ Gene

Paralogs for MPZ Gene

(4) SIMAP similar genes for MPZ Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with MPZ: view

Variants for MPZ Gene

Sequence variations from dbSNP and Humsavar for MPZ Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs121913583 Pathogenic, Charcot-Marie-Tooth disease 1B (CMT1B) [MIM:118200] 161,306,870(-) CCTTC(A/G)AAGAG reference, missense
rs121913584 Pathogenic, Charcot-Marie-Tooth disease 1B (CMT1B) [MIM:118200] 161,306,886(-) ATTGA(A/C/T)GAGGT reference, synonymous-codon
rs121913585 Pathogenic, Dejerine-Sottas syndrome (DSS) [MIM:145900], Charcot-Marie-Tooth disease 1B (CMT1B) [MIM:118200] 161,307,304(-) CATCT(C/G/T)CTTCA reference, missense
rs121913586 Pathogenic, Charcot-Marie-Tooth disease 2I (CMT2I) [MIM:607677], Dejerine-Sottas syndrome (DSS) [MIM:145900] 161,306,414(-) TCCTC(A/C/G)GGGTG reference, missense
rs121913587 Pathogenic, Charcot-Marie-Tooth disease 1B (CMT1B) [MIM:118200] 161,306,752(-) AGACA(C/T)AGTGG reference, missense

Structural Variations from Database of Genomic Variants (DGV) for MPZ Gene

Variant ID Type Subtype PubMed ID
nsv517826 CNV gain 19592680

Variation tolerance for MPZ Gene

Residual Variation Intolerance Score: 39.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.55; 11.92% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MPZ Gene

Human Gene Mutation Database (HGMD)
MPZ
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MPZ

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MPZ Gene

Disorders for MPZ Gene

MalaCards: The human disease database

(49) MalaCards diseases for MPZ Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
roussy-levy syndrome
  • charcot-marie-tooth disease
charcot-marie-tooth disease, type 1b
  • charcot-marie-tooth disease
charcot-marie-tooth disease, dominant intermediate d
  • charcot-marie-tooth disease dominant intermediate d
dejerine-sottas disease
  • dss
charcot-marie-tooth disease, type 2j
  • charcot-marie-tooth disease type 2j
- elite association - COSMIC cancer census association via MalaCards
Search MPZ in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MYP0_HUMAN
  • Adie pupil (ADIEP) [MIM:103100]: A stationary, benign disorder characterized by tonic, sluggishly reacting pupil and hypoactive or absent tendon reflexes. Adie pupil is a characteristic of Charcot-Marie-Tooth disease type 2J. {ECO:0000269 PubMed:16775239}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Charcot-Marie-Tooth disease 1B (CMT1B) [MIM:118200]: A dominant demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. {ECO:0000269 PubMed:10214757, ECO:0000269 PubMed:10545037, ECO:0000269 PubMed:10737979, ECO:0000269 PubMed:10965800, ECO:0000269 PubMed:11437164, ECO:0000269 PubMed:11438991, ECO:0000269 PubMed:11445635, ECO:0000269 PubMed:11835375, ECO:0000269 PubMed:12207932, ECO:0000269 PubMed:12221176, ECO:0000269 PubMed:12402337, ECO:0000269 PubMed:12477701, ECO:0000269 PubMed:12497641, ECO:0000269 PubMed:12707985, ECO:0000269 PubMed:12845552, ECO:0000269 PubMed:14711881, ECO:0000269 PubMed:15036333, ECO:0000269 PubMed:16488608, ECO:0000269 PubMed:18337304, ECO:0000269 PubMed:7504284, ECO:0000269 PubMed:7505151, ECO:0000269 PubMed:7527371, ECO:0000269 PubMed:7530774, ECO:0000269 PubMed:7550231, ECO:0000269 PubMed:7688964, ECO:0000269 PubMed:7693129, ECO:0000269 PubMed:7693130, ECO:0000269 PubMed:7694726, ECO:0000269 PubMed:8664899, ECO:0000269 PubMed:8797476, ECO:0000269 PubMed:8816708, ECO:0000269 PubMed:8835320, ECO:0000269 PubMed:8844219, ECO:0000269 PubMed:8990016, ECO:0000269 PubMed:9187667, ECO:0000269 PubMed:9217235, ECO:0000269 PubMed:9452091, ECO:0000269 PubMed:9452099, ECO:0000269 PubMed:9633821, ECO:0000269 Ref.40}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Charcot-Marie-Tooth disease 2I (CMT2I) [MIM:607677]: A dominant axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. Nerve conduction velocities are normal or slightly reduced. {ECO:0000269 PubMed:11835375, ECO:0000269 PubMed:12477701, ECO:0000269 PubMed:14638973, ECO:0000269 PubMed:15241803, ECO:0000269 PubMed:9595994}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Charcot-Marie-Tooth disease 2J (CMT2J) [MIM:607736]: A dominant axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. Nerve conduction velocities are normal or slightly reduced. Charcot-Marie-Tooth disease type 2J is characterized by the association of axonal peripheral neuropathy with hearing loss and pupillary abnormalities such as Adie pupil. {ECO:0000269 PubMed:10071056, ECO:0000269 PubMed:11080237, ECO:0000269 PubMed:15326256, ECO:0000269 PubMed:16775239}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Charcot-Marie-Tooth disease, dominant, intermediate type, D (CMTDID) [MIM:607791]: A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. The dominant intermediate type D is characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec. {ECO:0000269 PubMed:10406984}. Note=The disease may be caused by mutations affecting the gene represented in this entry.
  • Dejerine-Sottas syndrome (DSS) [MIM:145900]: A severe degenerating neuropathy of the demyelinating Charcot-Marie-Tooth disease category, with onset by age 2 years. Characterized by motor and sensory neuropathy with very slow nerve conduction velocities, increased cerebrospinal fluid protein concentrations, hypertrophic nerve changes, delayed age of walking as well as areflexia. There are both autosomal dominant and autosomal recessive forms of Dejerine-Sottas syndrome. {ECO:0000269 PubMed:11438991, ECO:0000269 PubMed:11596785, ECO:0000269 PubMed:11835375, ECO:0000269 PubMed:12497641, ECO:0000269 PubMed:7506095, ECO:0000269 PubMed:8630052, ECO:0000269 PubMed:8816708, ECO:0000269 PubMed:9187667, ECO:0000269 PubMed:9222756, ECO:0000269 PubMed:9452055, ECO:0000269 PubMed:9452091, ECO:0000269 PubMed:9633821}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Neuropathy, congenital hypomyelinating or amyelinating (CHN) [MIM:605253]: A severe degenerating neuropathy that results from a congenital impairment in myelin formation. It is clinically characterized by early onset of hypotonia, areflexia, distal muscle weakness, and very slow nerve conduction velocities (as low as 3m/s). Some patients manifest nearly complete absence of spontaneous limb movements, respiratory distress at birth, and complete absence of myelin shown by electron microscopy of peripheral nerves. Inheritance can be autosomal dominant or recessive. {ECO:0000269 PubMed:15184631}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Roussy-Levy syndrome (ROULS) [MIM:180800]: Autosomal dominant disorder that resembles Charcot-Marie-Tooth disease type 1 in that it presents with foot deformity, weakness and atrophy of distal limb muscles, especially the peronei, and absent tendon reflexes. The phenotype differs, however, in that it includes static tremor of the upper limbs and gait ataxia. {ECO:0000269 PubMed:10553995}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for MPZ

Genetic Association Database (GAD)
MPZ
Human Genome Epidemiology (HuGE) Navigator
MPZ
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MPZ
genes like me logo Genes that share disorders with MPZ: view

No data available for Genatlas for MPZ Gene

Publications for MPZ Gene

  1. An axonal form of Charcot-Marie-Tooth disease showing distinctive features in association with mutations in the peripheral myelin protein zero gene (Thr124Met or Asp75Val). (PMID: 11080237) Misu K … Sobue G (Journal of neurology, neurosurgery, and psychiatry 2000) 3 4 22 45 60
  2. The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype. (PMID: 10071056) De Jonghe P … Van Broeckhoven C (Brain : a journal of neurology 1999) 3 4 22 45 60
  3. Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene. (PMID: 7693129) Hayasaka K … Chance PF (Nature genetics 1993) 2 3 4 45 60
  4. Clinical features and molecular modelling of novel MPZ mutations in demyelinating and axonal neuropathies. (PMID: 19293842) Mandich P … Bellone E (European journal of human genetics : EJHG 2009) 3 22 45 60
  5. Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations. (PMID: 19259128) Miltenberger-Miltenyi G … Janecke AR (European journal of human genetics : EJHG 2009) 3 22 45 60

Products for MPZ Gene

Sources for MPZ Gene

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